Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy.

Mitochondrial cytopathies can have kidney involvement in up to half of cases. Their diagnosis is challenging due to phenotypic variability, lack of noninvasive tests to assess mitochondrial dysfunction, and genetic heterogeneity. We report on a young adult male with hypertrophic cardiomyopathy (HCM) and chronic kidney disease (CKD) with subnephrotic proteinuria who presented to the emergency department with kidney failure and hypervolemia requiring dialysis. A kidney biopsy showed focal segmental and global glomerulosclerosis, extensive foot process effacement, and abnormal mitochondria in podocytes and tubular epithelial cells; the genetic workup identified a rare FASTKD2 exon 2 variant, c.29G>C p.(Ser10Thr), in homozygosity; and functional mitochondrial assays in cultured skin fibroblasts showed reduction in FASTKD2 protein expression and moderate combined impairment in mitochondrial respiratory chain (MRC) assembly and function. This is the first report of a FASTKD2-associated cardiorenal mitochondrial cytopathy, characterized by young adult-onset proteinuric CKD and dilated HCM, in the absence of the severe neurologic manifestations described in patients with biallelic FASTKD2 variants. We hypothesize that the increased production of reactive oxygen species associated with moderate MRC impairment could result in a smoldering podocytopathy with progressive proteinuric CKD, without overt tubulopathy or encephalomyopathy-which might be, instead, pathogenically related to adenosine triphosphate deficiency.

Clinical Findings on Chromosome 1 Copy Number Variations.

Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute to chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs.A cross-sectional study was performed using the array comparative genomic hybridization database of the Genetic Department of the Faculty of Medicine. Patients with pathogenic (P) or likely pathogenic (LP) CNVs on chromosome 1 were selected for the study. Clinical information was collected for all patients. Databases and related literature were used for genotype-phenotype correlation.From a total of 2,516 patients included in the database we identified 24 patients (0.95%) with P (9 patients) or LP (15 patients) CNVs on chromosome 1. These CNVs account for 6.1% (24/392 CNVs) of the total P/LP CNVs in the database. Most common CNVs found were in the 1q21.1-1q21.2 region.This study reinforces the association between chromosome 1 CNV and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs.

Impact of copy number variants in epilepsy plus neurodevelopment disorders.

INTRODUCTION: Epilepsy, a neurological disorder characterized by recurring unprovoked seizures due to excessive neuronal excitability, is primarily attributed to genetic factors, accounting for an estimated 70 % of cases. Array-comparative genomic hybridization (aCGH) is a crucial genetic test for detecting copy number variants (CNVs) associated with epilepsy. This study aimed to analyze a cohort of epilepsy patients with CNVs detected through aCGH to enhance our understanding of the genetic underpinnings of epilepsy. METHODS: A retrospective cross-sectional study was conducted using the aCGH database from the Genetics Department of the Faculty of Medicine of the University of Porto, encompassing 146 patients diagnosed with epilepsy, epileptic encephalopathy, or seizures. Clinical data were collected, and aCGH was performed following established guidelines. CNVs were classified based on ACMG standards, and patients were categorized into four groups according to their clinical phenotype. RESULTS: Among the 146 included patients, 94 (64 %) had at least one CNV, with 22 (15.1 %) classified as pathogenic or likely pathogenic. Chromosomes 1, 2, 16, and X were frequently implicated, with Xp22.33 being the most reported region (8 CNVs). The phenotype "Epilepsy and global developmental delay/intellectual disability" showed the highest prevalence of clinically relevant CNVs. Various CNVs were identified across different groups, suggesting potential roles in epilepsy. CONCLUSIONS: This study highlights the significance of aCGH in unraveling the genetic basis of epilepsy and tailoring treatment strategies. It contributes valuable insights to the expanding knowledge in the field, emphasizing the need for research to elucidate the diverse genetic causes of epilepsy.

Effectiveness of pharmacological interventions for managing ADHD symptoms in individuals with autism spectrum disorder: A systematic review and meta-analysis.

OBJECTIVES: This systematic review sought to provide evidence for the effectiveness of common pharmacological interventions used for treating attention deficit hyperactivity disorder (ADHD) symptoms in the autism spectrum disorder (ASD) population, considering studies attempting to find safe and effective drugs. METHODS: We searched for randomized controlled trials describing the effectiveness and/or safety profile of pharmacological interventions for treating ASD and ADHD or ASD with ADHD symptoms using three bibliographic databases: PubMed, Cochrane Library, and Embase. We have chosen ADHD symptoms measured by any clinical scale as the primary outcome. As additional outcomes, we have used other symptoms of aberrant behavior measured by the aberrant behavior checklist, satisfaction with treatment, and peer satisfaction. RESULTS: Twenty-two publications met the inclusion criteria for the systematic review and eight for the meta-analysis. In our investigation, we found a few articles using clonidine, modafinil, and bupropion as interventions when compared to methylphenidate (MPH). Our meta-analysis showed that MPH had positive changes compared to placebo in symptoms such as hyperactivity, irritability, or inattention. However, no effect was found in stereotyped symptoms, and our data's quantitative analysis revealed a large effect of MPH-induced adverse effects on the dropout rate. On the other hand, atomoxetine initiation had positive effects when compared to placebo on symptoms of hyperactivity and inattention. We have found no effect of atomoxetine on stereotypes or irritability. Furthermore, atomoxetine did not influence side effects that caused dropouts from studies. CONCLUSION: Our results indicated that atomoxetine has a modest effect on hyperactivity and inattention symptoms, with a relatively benign profile of side effects. MPH appears to be effective in handling hyperactivity, inattention, and irritability symptoms. However, our results on atomoxetine revealed increased dropouts due to adverse effects when compared to MPH or placebo. Evidence for other substances such as guanfacine, clonidine, bupropion, or modafinil is either preliminary or nonexistent.

Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.

Background: Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype-phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome. Methods: To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines. Results: A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions. Conclusions: This study will help to establish new genotype-phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene. So far, nine patients have been reported in the literature and more clinical descriptions are essential to further delineate the phenotype of KIDAR. Here we report a new patient with KIDAR and compare the clinical findings with those from the other published cases with molecular confirmation. We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photophobia. Mild global developmental delay was noted. Persistent mild anemia, neutropenia, thrombocytopenia, and low serum copper, ceruloplasmin and growth hormone were also present. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and thin corpus callosum. Genetic testing revealed a homozygous deletion in the AP1B1 gene, possibly including the same exons as a previously reported deletion. Comparing the phenotypes of all reported individuals, they are highly concordant and major features are enteropathy with feeding difficulties, failure to thrive, ichthyosis, palmoplantar keratoderma, sensorineural deafness and sparse and brittle hair. Here we report other features present in more than one patient that could be part of the phenotypic spectrum and suggest copy number variation analysis to be performed alongside sequencing of the AP1B1 gene in case of suspicion.

Immunoinflammatory and oxidative alterations in subjects with schizophrenia under clozapine: A meta-analysis.

Clozapine presents immunoregulatory properties not well understood. To address this issue, we performed this systematic review to evaluate the immune alterations induced by clozapine and its relationship with the drug's clinical response and compare it with other antipsychotics. Our systematic review has selected nineteen studies meeting the inclusion criteria, from which eleven were included in the meta-analysis, totalizing 689 subjects distributed over three different comparisons. The results revealed that clozapine treatment activates the compensatory immune-regulatory system (CIRS) (Hedges's g = +1.049; CI +0.62 - +1.47, p < 0.001) but has no effects on the immune-Inflammatory Response System (IRS) (Hedges's g= -0.27; CI -1.76 - +1.22, p = 0.71), M1 macrophage (Hedges's g= -0.32; CI -1.78 - +1.14, p = 0.65) and Th1 (Hedge's g = 0.86; CI -0.93 - +1.814, p = 0.07) profiles. Comparing clozapine-treated patients with other anti-psychotics-treated, plasma levels of interleukin (IL)-6 were greater in the clozapine group (Hedge's g = 0.75; CI 0.35 - 1.15, p<0.001). In addition, higher IL-6 plasma levels after four weeks of clozapine treatment were related to the development of clozapine-induced fever; however, IL-6 levels recovered to baseline in 6-10 weeks due to an unexplained compensatory mechanism. In conclusion, our results show that clozapine treatment causes a time-dependent mixed immune profile characterized by increased IL-6 levels and CIRS activation, which may contribute to this drug mechanism of action and adverse effects. Future studies must be designed to investigate the relationship between clozapine-induced immune alterations and symptom remission, treatment resistance, and adverse effects, given the importance of this drug for treating resistant schizophrenia.

Seeing with the eyes shut: neural basis of enhanced imagery following Ayahuasca ingestion.

The hallucinogenic brew Ayahuasca, a rich source of serotonergic agonists and reuptake inhibitors, has been used for ages by Amazonian populations during religious ceremonies. Among all perceptual changes induced by Ayahuasca, the most remarkable are vivid "seeings." During such seeings, users report potent imagery. Using functional magnetic resonance imaging during a closed-eyes imagery task, we found that Ayahuasca produces a robust increase in the activation of several occipital, temporal, and frontal areas. In the primary visual area, the effect was comparable in magnitude to the activation levels of natural image with the eyes open. Importantly, this effect was specifically correlated with the occurrence of individual perceptual changes measured by psychiatric scales. The activity of cortical areas BA30 and BA37, known to be involved with episodic memory and the processing of contextual associations, was also potentiated by Ayahuasca intake during imagery. Finally, we detected a positive modulation by Ayahuasca of BA 10, a frontal area involved with intentional prospective imagination, working memory and the processing of information from internal sources. Therefore, our results indicate that Ayahuasca seeings stem from the activation of an extensive network generally involved with vision, memory, and intention. By boosting the intensity of recalled images to the same level of natural image, Ayahuasca lends a status of reality to inner experiences. It is therefore understandable why Ayahuasca was culturally selected over many centuries by rain forest shamans to facilitate mystical revelations of visual nature.

Normal sperm in a 2;2 homologous male translocation carrier.

PURPOSE: Carriers of balanced structural chromosomal abnormalities are phenotypically normal but are at high risk of infertility. Translocations usually occur between two non-homologous chromosomes. When occur between homologous chromosomes, an extremely rare event, generally involve acrocentric chromosomes. We present an infertile male referred for genetic analysis with a pure balanced homologous 2;2 translocation and normal sperm in the ejaculate. METHODS: Conventional cytogenetic and fluorescence in situ hybridization (FISH) were used in karyotype and sperm analysis, respectively. RESULTS: Male's karyotype revealed a pure balanced translocation involving homologous chromosomes 2: 46,XY,t(2;2)(p23;q21.2). Sperm analysis by FISH revealed the presence of 15.8 % of normal and 84.2 % of abnormal spermatozoa for chromosome 2. CONCLUSIONS: This is the first report of confined gonadal mosaicism in a pure homologous non-acrocentric chromosome translocation carrier. Preimplantation genetic diagnosis for chromosome 2 should be offered as a reproductive option.

Familial Amyloidotic Polyneuropathy Type 1: A Hereditary Legacy.

Familial amyloidotic polyneuropathy type 1 (FAP 1) is a systemic autosomal dominant amyloidosis, associated with transthyretin mutation. It is characterised by motor, autonomic and sensory neuropathy with relentless progression that results from amyloid deposition in different tissues. The authors describe the case of a patient with family history of a nephew, who underwent liver transplantation for unknown pathology, as well as the deaths of both his mother and a brother due to stroke. He reported complaints of dizziness, asthenia and sensory changes in the lower limbs and a history of arterial hypertension, dyslipidemia and chronic kidney disease. Physical examination revealed macroglossia and pain hyposensitivity in the anterior feet. In subsequent evaluation, the presence of proteinuria, changes in cardiac electrical conduction, sensory and motor neuropathy with sympathetic and parasympathetic dysfunction in electrophysiological study raised the suspicion of a systemic disease. The patient underwent kidney biopsy, which was positive for amyloid. FAP 1 diagnosis was later confirmed by genetic testing. Family history review confirmed that patient's liver transplanted nephew and other two nieces had FAP 1, which he was initially unaware of. Key Words: Familial amyloidotic polyneuropathy, Systemic amyloidosis, Transthyretin.

Strongyloidiasis: A Diagnosis to Consider in Previously Endemic Regions in Portugal.

Strongyloides stercoralis is a parasite capable of surviving for decades in a single host, due to its ability of auto-infection. Strongyloidiasis usually presents a chronic and asymptomatic evolution, and isolated eosinophilia, cutaneous or gastrointestinal abnormalities are the most frequent findings. Between the 1910s and 1980s, several cases of autochthonous strongyloidiasis in Portugal have been described. We report the case of a patient with abdominal pain, ascites and marked eosinophilia. The diagnostic investigation excluded frequent causes of eosinophilia. The diagnosis of strongyloidiasis was confirmed by immunoenzymatic positivity of the antibody to Strongyloides stercoralis. Since the patient lived in a region where several cases of strongyloidiasis were diagnosed in the past, and given the absence of previous trips abroad, this is the first case identified in recent decades of autochthonous strongyloidiasis in Portugal. The authors point out the possibility of chronic infection acquired in regions previously considered foci of great endemicity.

O Strongyloides stercoralis é um parasita capaz de sobreviver durante décadas num só hospedeiro, graças à sua capacidade de autoinfecção. A estrongiloidíase apresenta uma evolução habitualmente crónica e assintomática, sendo a eosinofilia isolada, as alterações cutâneas e gastrointestinais as manifestações mais frequentes. Entre as décadas de 1910 e 1980, vários casos de estrongiloidíase autóctone de Portugal foram descritos. Os autores apresentam o caso de uma doente com dor abdominal, ascite e eosinofilia marcada. O estudo etiológico excluiu causas frequentes de eosinofilia, sendo confirmado o diagnóstico de estrongiloidíase pela positividade imunoenzimática do anticorpo para Strongyloides stercoralis. Residindo a doente numa região onde foram, no passado, diagnosticados vários casos de estrongiloidíase e na ausência de viagens previas para o estrangeiro, este representa o primeiro caso identificado nas últimas décadas de estrongiloidíase autóctone em Portugal. Os autores alertam para a possibilidade de infeção crónica adquirida em regiões consideradas, previamente, focos de grande endemicidade.

Cardiopulmonary Resuscitation Induced Consciousness A Case Report in an Elderly Patient.

Cardiopulmonary resuscitation-induced consciousness is a rarely described and often misunderstood phenomenon, although it can be encountered. High quality cardiopulmonary resuscitation (CPR) may lead a patient to recover consciousness while in cardiac arrest. The authors present the case of an 89-year-old male patient who received CPR after a cardiac arrest. Spontaneous movements during CPR were noted and prompted several CPR interruptions. These movements immediately stopped during chest compression pauses. Physical restraint was used in order to be able to continue with the CPR algorithm, but sedation may be the best approach. Guidelines on how to identify and manage these cases need to be developed. LEARNING POINTS: Although rare, cardiopulmonary resuscitation-induced consciousness is a phenomenon that physicians should be aware of, given the implications it may have during resuscitation manoeuvres.Cardiopulmonary resuscitation-induced consciousness can readily be recognised by the presence during cardiac arrest of spontaneous and purposeful patient movements that immediately cease after stopping chest compressions.The use of sedative and analgesic drugs such as ketamine may be the best choice to manage cardiopulmonary resuscitation-induced consciousness, as an alternative to physical restraint.

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

BACKGROUND: 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity - 12q14 microduplication syndrome. - as well as confirming the role of HMGA2 gene in growth regulation. CASE PRESENTATION: Array Comparative Genomic Hybridization (CGH), Karyotype, Fluorescence in situ Hybridization, Quantitative-PCR analysis and Whole exome sequencing (WES) were performed in a girl presenting overgrowth and obesity. Array CGH identified a 1.5 Mb 12q14.3 microduplication involving HMGA2, GRIP1, IRAK3, MSRB3 and TMBIM4 genes. Karyotype and FISH showed that duplication was a de novo insertion of 12q14.3 region on chromosome 9p resulting in an interstitial microduplication. Q-PCR confirmed the duplication only in the proband. WES revealed no pathogenic variants. CONCLUSIONS: Phenotypic comparison with patients with 12q14 microdeletion syndrome showed a reciprocal presentation, suggesting a phenotypically recognizable 12q14 microduplication syndrome as well as confirming the role of HMGA2 gene in growth regulation. It is also indicative that other genes, such as IRAK3 and MSRB3 might have of role in weight gain and obesity.

Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization.

BACKGROUND: Array comparative genomic hybridization (aCGH) has been replacing karyotype in neurodevelopment diseases or intellectual disability cases. Regarding prenatal diagnosis (PND) karyotyping is still the criterion standard technique; nevertheless, the application of aCGH in this field has been increasing dramatically and some groups recommended it as the first-tier prenatal genetic test in cases of fetal ultrasound abnormalities. Despite aCGH greater resolution, the detection of variants of unknown significance (VOUS) is not desirable, so it's need some reflexion before generalized application on PND. OBJECTIVE: The aim of this study was to analyze the prevalence and type of copy number variants (CNVs) detected in the 55 PND samples collected from pregnancies with indication to perform aCGH. METHODS: aCGH was performed using Agilent 4 × 180K microarrays and results were analyzed using CytoGenomics software. RESULTS AND CONCLUSION: Eight (14.5%) cases had pathogenic or likely pathogenic CNVs. VOUS were found in 21.8% of the cases, but this frequency could be minimized if only large CNVs above 1 million base pairs that are outside the clinically curated targeted regions were considered.

A 32-Year-Old Woman with Relapsing Pneumonia.

INTRODUCTION: Isolated right pulmonary artery agenesis in an adult patient is an extremely rare condition that requires a high level of suspicion to make the diagnosis. CASE DESCRIPTION: A 32-year-old woman presented to the emergency room with a 4-month history of recurrent respiratory infections. Chest radiography and computerized tomography (CT) revealed alveolar opacities on the medium and inferior right lobes. Fibreoptic bronchoscopy with bronchial aspirate was negative on both cytological and microbiological analysis. Due to the persistent of the imaging findings after a full course of a wide-spectrum antibiotic, an angio-CT was performed, revealing a complete stop at the level of the right pulmonary artery. Angiography confirmed the diagnosis of right pulmonary artery agenesis. DISCUSSION: Currently, the patient has no exertional dyspnoea, screening for pulmonary hypertension has so far been negative and no further respiratory infections have occurred. It is important to call attention to a major congenital malformation that may remain asymptomatic until adulthood. LEARNING POINTS: Unilateral pulmonary agenesis is a rare entity that can present in multiple forms.A high level of suspicion and a thorough investigation is required for the diagnosis, with angiography remaining important even though chest angio-CT findings can suggest the diagnosis.A major complication of this condition is pulmonary hypertension, which can appear early in infancy or with conditions that modify the pulmonary circulation such as pregnancy, although previous pregnancies did not trigger pulmonary hypertension in our patient.

Evaluation of family caregiver satisfaction with a mental health inpatient service.

OBJECTIVE: To evaluate the satisfaction of family caregivers with a mental health inpatient service in Brazil. METHODS: This was a cross-sectional study with a quantitative approach. A sample of 80 caretaking family members answered the abbreviated version of the Brazilian Mental Health Services' Family Satisfaction scale (SATIS-BR) and a sociodemographic questionnaire. Categorical variables were expressed as frequencies and percentages and quantitative variables as means and standard deviations. Interactions among variables and indexes of the scale were analyzed using the Student's t test, Pearson correlation coefficient and analysis of variance. RESULTS: The results showed a high mean overall satisfaction score when considering the categorization of the items of the scale, with higher satisfaction indexes in the 'Treatment results' subscale and lower ones in the 'Reception and competence of staff' and 'Privacy and confidentiality' subscales. In the comparison of the samples studied, greater scores were observed in general satisfaction and in factors in the medical residency care model than in the attending psychiatrist model. There were no significant differences in terms of family member satisfaction in relation to sociodemographic variables. CONCLUSION: Family member satisfaction was high. The need for improvement in aspects related to the infrastructure of services was evident. This paper underlines the importance of continuous and regular evaluations of the services provided, focusing on the satisfaction of users and family members in order to better understand the factors that contribute towards the quality of care provided.

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia.

The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-onset schizophrenia. The presence of schizophrenia with very early onset on absence of corpus callosum offers an opportunity to examine neurodevelopmental model and theories regarding to interhemispheric communication in the pathogenesis of psychosis.

Anxiolytic and antidepressant effects of cannabidiol: a systematic review / Efeitos ansiolíticos e antidepressivos do canabidiol: uma revisão sistemática

Objetctive: Realize a systematic review on articles about cannabidiol (CBD) as an anxiolytic and antidepressant drug. Methodology: A systematic review in PubMed, Science Direct and PsycINFO databases taking into consideration articles published in English and Portuguese from 2008 to 2018 with animal experimentation. Results: Eleven articles with experimental studies on animals were included. All studies exhibited anxiolytic and antidepressant activities after CBD use. Conclusion: It was proven by several experiments the anxiolytic and antidepressant activity of CBD, however there is still a need of more preclinicals and clinicals studies to elucidate its mechanisms.

Objetivo: Realizar uma revisão sistemática de artigos sobre o canabidiol (CBD) como ansiolítico e antidepressivo. Metodos: Revisão sistemática nas bases de dados PubMed, Science Direct e PsycINFO considerando artigos publicados em inglês e português de 2008 a 2018 com experimentação animal. Resultados: Onze artigos com estudos experimentais em animais foram incluídos. Todos os estudos exibiram atividades ansiolíticas e antidepressivas após o uso de CBD. Conclusão: Foi comprovada por diversos experimentos a atividade ansiolítica e antidepressiva do CBD, porém ainda há necessidade de mais estudos pré-clínicos e clínicos para elucidar seus mecanismos.

Evaluation of family caregiver satisfaction with a mental health inpatient service / Avaliação da satisfação dos familiares com um serviço de internação em saúde mental

Abstract Objective To evaluate the satisfaction of family caregivers with a mental health inpatient service in Brazil. Methods This was a cross-sectional study with a quantitative approach. A sample of 80 caretaking family members answered the abbreviated version of the Brazilian Mental Health Services' Family Satisfaction scale (SATIS-BR) and a sociodemographic questionnaire. Categorical variables were expressed as frequencies and percentages and quantitative variables as means and standard deviations. Interactions among variables and indexes of the scale were analyzed using the Student's t test, Pearson correlation coefficient and analysis of variance. Results The results showed a high mean overall satisfaction score when considering the categorization of the items of the scale, with higher satisfaction indexes in the 'Treatment results' subscale and lower ones in the 'Reception and competence of staff' and 'Privacy and confidentiality' subscales. In the comparison of the samples studied, greater scores were observed in general satisfaction and in factors in the medical residency care model than in the attending psychiatrist model. There were no significant differences in terms of family member satisfaction in relation to sociodemographic variables. Conclusion Family member satisfaction was high. The need for improvement in aspects related to the infrastructure of services was evident. This paper underlines the importance of continuous and regular evaluations of the services provided, focusing on the satisfaction of users and family members in order to better understand the factors that contribute towards the quality of care provided.

Resumo Objetivo Avaliar a satisfação de familiares cuidadores com um serviço de internação em saúde mental no Brasil. Métodos Trata-se de um estudo transversal, com abordagem quantitativa. Uma amostra de 80 familiares cuidadores respondeu à Escala de Avaliação da Satisfação de Familiares com os Serviços de Saúde Mental (SATIS-BR), além de questionário sociodemográfico. As variáveis categóricas foram expressas como freqüências e porcentagens, e as variáveis quantitativas, como médias e desvios padrão. As interações entre variáveis e índices da escala foram analisadas utilizando o test t de Student, correlação de Pearson e análise de variância. Resultados Os resultados indicaram escore médio de satisfação geral elevado quando considerada a categorização dos itens da escala, tendo ocorrido maiores índices de satisfação no fator 'Resultados do tratamento' e menores índices nos fatores 'Acolhida e competência da equipe' e 'Privacidade e confidencialidade'. Na comparação das amostras estudadas, foram observados maiores escores de satisfação geral e por fator no modelo de atendimento residência médica em relação ao modelo psiquiatra assistente. Não houve diferenças significativas quanto à satisfação dos familiares em relação às variáveis sociodemográficas. Conclusão A satisfação dos familiares foi elevada. Foram evidenciadas necessidades de melhoria nos aspectos relacionados à infraestrutura dos serviços. Esta pesquisa aponta para a importância de serem realizadas avaliações contínuas e regulares dos serviços, tendo como foco a satisfação dos usuários e familiares para uma melhor compreensão dos fatores que contribuem para a qualidade do atendimento.